Recently published Genetics papers
Over the last 24 months we have published a number of high profile articles from the IBD research at Southampton, mainly based on the genetic sequencing and clinical data from the patients recruited to the study over the last 11 years. We are now progressing towards translation of findings into the clinic, and pursuing insights into the precise cause of disease for a number of patients. Most excitingly we now want to utilise the information we have gathered to create tools to predict patient outcome at the point of diagnosis, so we can personalise diagnosis, treatment and improve outcomes.
In 2020 we published an article entitled Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes where we identified important genetic variation that may contribute to disease development in specific individuals. These data have kickstarted the team to work with the clinical genetics doctors in 2022 and create a clinic to directly use genetics to benefit a small number of patients.
In 2021 we used data on which genes were turned on/off in samples of bowel tissue, identifying specific parts of the immune system that were turned on and the cells that were driving this immune response. The title of the paper was Ileal Transcriptomic Analysis in Paediatric Crohn’s Disease Reveals IL17- and NOD-signalling Expression Signatures in Treatment-naïve Patients and Identifies Epithelial Cells Driving Differentially Expressed Genes
Finally, in 2022 we have just published an article entitled Deleterious Genetic Variation Across the NOD Signaling Pathway Is Associated With Reduced NFKB Signaling Transcription and Upregulation of Alternative Inflammatory Transcripts in Pediatric Inflammatory Bowel Disease, where we merge genetic and gene expression data and can identify patients with specific variants that impact on the immune system. These results pave the way to be able to classify patients into different causes of IBD, based on the genetic markers they have. We hope this will translate to better treatment within the next 5 years